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Genetics Home Reference: your guide to understanding genetic conditions
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TAZ

Reviewed November 2007

What is the official name of the TAZ gene?

The official name of this gene is “tafazzin.”

TAZ is the gene's official symbol. The TAZ gene is also known by other names, listed below.

What is the normal function of the TAZ gene?

The TAZ gene provides instructions for producing a group of proteins called tafazzins. Tafazzins seem to have two distinct functions in cells and tissues. First, tafazzins play a role in the maintenance of the inner membrane of energy-producing centers in cells (mitochondria). Specifically, these proteins are involved in maintaining levels of a specific type of fat (lipid) called cardiolipin, which is essential for energy production in the mitochondria. Tafazzins also promote the differentiation and maturation of cells that build bones (osteoblasts), while preventing cells that store fat (adipocytes) from maturing.

How are changes in the TAZ gene related to health conditions?

3-methylglutaconic aciduria - caused by mutations in the TAZ gene

More than 70 mutations in the TAZ gene have been shown to cause 3-methylglutaconic aciduria type II, commonly known as Barth syndrome. Many of these mutations change a single protein building block (amino acid) in the tafazzin protein. Some mutations cause an abnormally small protein to be made. Other mutations disrupt the way the gene's instructions are used to make the protein. All of these mutations change the structure of tafazzin and prevent it from performing its normal role in maintaining cardiolipin levels in the mitochondria. It is not well understood how defects in tafazzin lead to the signs and symptoms of Barth syndrome.

other disorders - caused by mutations in the TAZ gene

Some mutations in the TAZ gene cause a condition called X-linked dilated cardiomyopathy. This is a condition in which the heart becomes so weakened and enlarged that it cannot pump blood efficiently, leading to heart failure. The decreased heart function can negatively affect many body systems and lead to swelling in the legs and abdomen, fluid in the lungs, and an increased risk of blood clots.

Other mutations in the TAZ gene cause a condition called isolated noncompaction of left ventricular myocardium (INVM). This condition occurs when the lower left chamber of the heart (left ventricle) does not develop correctly. The heart muscle is weakened and cannot pump blood efficiently, often leading to heart failure. Sometimes abnormal heart rhythms (arrhythmias) can also occur.

Where is the TAZ gene located?

Cytogenetic Location: Xq28

Molecular Location on the X chromosome: base pairs 153,639,876 to 153,650,064

The TAZ gene is located on the long (q) arm of the X chromosome at position 28.

The TAZ gene is located on the long (q) arm of the X chromosome at position 28.

More precisely, the TAZ gene is located from base pair 153,639,876 to base pair 153,650,064 on the X chromosome.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about TAZ?

You and your healthcare professional may find the following resources about TAZ helpful.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dcm-ov)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for TAZ (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6901%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((TAZ%5BTIAB%5D)%20OR%20(tafazzin%5BTIAB%5D)%20OR%20(Barth%20syndrome%5BTIAB%5D))%20OR%20((BTHS%5BTIAB%5D)%20OR%20(CMD3A%5BTIAB%5D)%20OR%20(EFE%5BTIAB%5D)%20OR%20(EFE2%5BTIAB%5D)%20OR%20(G4.5%5BTIAB%5D)%20OR%20(tafazzin%5BTIAB%5D)%20OR%20(XAP-2%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201080%20days%22%5Bdp%5D)

  • OMIM - Genetic disorder catalog

    • BARTH SYNDROME (http://omim.org/entry/300183)
    • TAFAZZIN (http://omim.org/entry/300394)
    • BARTH SYNDROME (http://omim.org/entry/300069)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_TAZ.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6901)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=6901)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=11577)
    • TAZ Gene Mutation Database (http://www.barthsyndrome.org/english/View.asp?x=1357)

What other names do people use for the TAZ gene or gene products?

  • BTHS
  • cardiomyopathy, dilated 3A (X-linked)
  • CMD3A
  • EFE
  • EFE2
  • G4.5
  • LVNCX
  • tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome)
  • TAZ_HUMAN
  • XAP-2

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding TAZ?

aciduria ; adipocytes ; amino acid ; cardiomyopathy ; differentiation ; dilated ; gene ; heart failure ; lipid ; mitochondria ; myocardium ; protein ; syndrome ; ventricle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJ. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A. 2004 May 1;126A(4):349-54. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15098233?dopt=Abstract)
  • Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet. 1996 Apr;12(4):385-9. (http://www.ncbi.nlm.nih.gov/pubmed/8630491?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6901)
  • Gonzalez IL. Barth syndrome: TAZ gene mutations, mRNAs, and evolution. Am J Med Genet A. 2005 May 1;134(4):409-14. (http://www.ncbi.nlm.nih.gov/pubmed/15793838?dopt=Abstract)
  • Hong JH, Hwang ES, McManus MT, Amsterdam A, Tian Y, Kalmukova R, Mueller E, Benjamin T, Spiegelman BM, Sharp PA, Hopkins N, Yaffe MB. TAZ, a transcriptional modulator of mesenchymal stem cell differentiation. Science. 2005 Aug 12;309(5737):1074-8. (http://www.ncbi.nlm.nih.gov/pubmed/16099986?dopt=Abstract)
  • Li G, Chen S, Thompson MN, Greenberg ML. New insights into the regulation of cardiolipin biosynthesis in yeast: implications for Barth syndrome. Biochim Biophys Acta. 2007 Mar;1771(3):432-41. Epub 2006 Jul 8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16904369?dopt=Abstract)
  • Lu B, Kelher MR, Lee DP, Lewin TM, Coleman RA, Choy PC, Hatch GM. Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues. Biochem Cell Biol. 2004 Oct;82(5):569-76. (http://www.ncbi.nlm.nih.gov/pubmed/15499385?dopt=Abstract)
  • Ma L, Vaz FM, Gu Z, Wanders RJ, Greenberg ML. The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome. J Biol Chem. 2004 Oct 22;279(43):44394-9. Epub 2004 Aug 10. (http://www.ncbi.nlm.nih.gov/pubmed/15304507?dopt=Abstract)
  • OMIM: TAFAZZIN (http://omim.org/entry/300394)
  • Vaz FM, Houtkooper RH, Valianpour F, Barth PG, Wanders RJ. Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism. J Biol Chem. 2003 Oct 31;278(44):43089-94. Epub 2003 Aug 20. Erratum in: J Biol Chem. 2004 Jun 18;279(25):26802. (http://www.ncbi.nlm.nih.gov/pubmed/12930833?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2007
Published: May 13, 2013